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CHLA Case Presentation

CHLA Case Presentation. History. HPI: 10 year old male with Down syndrome and a 1 week history of headache, nausea, vomiting, dizziness and unsteady gait. PMH: Down syndrome, ASD PSH: PE tubes, orchiopexy Meds: None NKDA. Physical Exam. Awake and alert CN II-XII intact

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CHLA Case Presentation

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  1. CHLA Case Presentation

  2. History HPI: 10 year old male with Down syndrome and a 1 week history of headache, nausea, vomiting, dizziness and unsteady gait. PMH: Down syndrome, ASD PSH: PE tubes, orchiopexy Meds: None NKDA

  3. Physical Exam Awake and alert CN II-XII intact Motor: 5/5 bilaterally Sensation: Intact bilaterally Reflexes: Symetric, no Babinski CBLM: FTN and RAM intact, gait ataxic

  4. Differential Diagnosis • Cavernous malformation • Teratoma

  5. Procedure Posterior fossa craniotomy with gross total resection of mass

  6. Diagnosis Cavernous Malformation

  7. Cavernous Malformation • Also known as cavernous angiomas, cavernomas and hemangiomas • Gross appearance is red and lobulated, similar to “mulberries” • Size is usually 0.5 to 3 cm • Adjacent brain is often hemosiderin stained

  8. Cavernous Malformation • No large supplying artery or draining vein • Low flow • No intervening brain • Adjacent brain not ischemic • Microscopically have blood containing sinusoidal chambers lined by simple epithelium • The vascular spaces are separated by fibrous or collagenous tissue rather than brain • Often have a gliotic margin

  9. Cavernous Malformation • 9% of all types of brain vascular malformations • Prevalence is 0.4-0.8% • M:F ratio is1:1 • Age at presentation 20-40 • Present with headache, focal neurological deficit, seizures, hemorrhage

  10. Cavernous Malformation • CM can repetitively hemorrhage resulting in • Gliosis • Tissue discoloration • Hemosiderin-laden macrophages • Microcalcification • Hyalinization • Cysts with blood breakdown products

  11. Cavernous Malformation • Can be familial • Hispanic families • CCM1, 7q11-21 • Non-Hispanic families • CCM2, 7p13-15 • CCM3, 3q25.2-27

  12. Risk of hemorrhage • Cantu, C., L. Murillo-Bonilla, et al. (2005). "Predictive factors for intracerebral hemorrhage in patients with cavernous angiomas." Neurol Res27(3): 314-8. • 133 Hispanic patients with 5 year follow-up • ICH rate 1.71% per patient per year • Lobar 1.22% • Brainstem 2.33% • Cerebellum 2.39% • Deep hemispheric 2.82% • Decreased rate of hemorrhage if family history of epilepsy or lobar location of CM

  13. Association with Venous Malformations • Abdulrauf, S. I., M. Y. Kaynar, et al. (1999). "A comparison of the clinical profile of cavernous malformations with and without associated venous malformations." Neurosurgery44(1): 41-6; discussion 46-7. • 55 patients • 24% had CM’s associated with VM’s • F>M • Greater risk of symptomatic hemorrhage (62% vs. 38%) • More likely to have lesions in the posterior fossa (P=0.001) • Less likely to present with seizures • Less likely to have family history

  14. Association with Down Syndrome • There is no known association between Down syndrome and the development of CM • Singh et al. (1993) reported on a 30 year-old male with Down sydrome and a cervical intramedullary CM (“chance association”)

  15. Familial Cavernomas • Gunel, M., I. A. Awad, et al. (1996). "A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans." N Engl J Med334(15): 946-51. • Studied 57 Hispanic patients • 47 were from 14 different kindreds with familial CMs • 10 were sporadic cases • Found that all cases could be attributed to inheritance of the same mutation on 7q from a common ancestor with incomplete penetrance

  16. Familial Cavernomas • Labauge, P., L. Brunereau, et al. (2000). "The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients." Neuroradiology42(5): 327-32. • 40 patients with 3.2 year follow-up • 232 CMs, 5.9 per patient • Hemorrhagic risk 2.5% per lesion per year • 27.5% developed new CMs • Incidence of new lesions 0.2% per patient year • 3.9% of lesions in 22.5% of patients changed significantly in size

  17. Familial Cavernomas • Labauge, P., L. Brunereau, et al. (2001). "Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations." Neurology57(10): 1825-8. • Prospectively followed 33 asymptomaitic non-Hispanic patients with familial CMs for 2.1 years • Total of 234 CMs, mean 7.1 per subject, range 1-85 CMs per subject • 2 subjects became symptomatic (hemorrhage, seizure) • 30 new lesions appeared in 10 subjects (46%) • 0.4 lesions per year • Four lesions (1.7%) increased in size in 3 subjects (9.1%)

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